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NR_001566.1(TERC):n.323C>T AND Aplastic anemia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000032571.2

Allele description [Variation Report for NR_001566.1(TERC):n.323C>T]

NR_001566.1(TERC):n.323C>T

Genes:
LOC110806306:telomerase RNA component (TERC) promoter [Gene]
TERC:telomerase RNA component [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.2
Genomic location:
Preferred name:
NR_001566.1(TERC):n.323C>T
HGVS:
  • NC_000003.12:g.169764738G>A
  • NG_016363.1:g.5323C>T
  • LRG_347t1:n.323C>T
  • LRG_347:g.5323C>T
  • NC_000003.11:g.169482526G>A
  • NR_001566.1:n.323C>T
Nucleotide change:
NR_001566.1:r.323c>u (C323T)
Links:
dbSNP: rs199422281
NCBI 1000 Genomes Browser:
rs199422281
Molecular consequence:
  • NR_001566.1:n.323C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Aplastic anemia
Identifiers:
MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000056243GeneReviews
no assertion criteria provided
pathologic
(May 10, 2012) 		not providedcuration

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration

Details of each submission

From GeneReviews, SCV000056243.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Mar 26, 2023